A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232546



Internal ID22372531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171998528..171998647hg38UCSC Ensembl
chr3:171716318..171716437hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14463680, nssv14435313
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232546
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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